A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6875



Internal ID5087130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:41591484..41595564hg19UCSC Ensembl
OuterchrX:41476428..41480508hg18UCSC Ensembl
OuterchrX:41347738..41351818hg17UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg196894
hg186894
hg176894
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv5212
SamplesNA19129
Known GenesCASK
Method
AnalysisSample level sites were merged to generate a set of non-redundant variant regions. Two non-redundant inversion variants (chr 2 positions 89438708-89655419 and 89958869-91208466) were corrected from the original publication for coordinates and associated sample-level data.
PlatformCapillary
Comments
ReferenceKidd et al 2008
Pubmed ID18451855
Accession Number(s)nsv6875
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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